Mutation analysis of the ROM1 gene in retinitis pigmentosa |
| |
| Authors: | Bascom, Roger A. Liu, Lin Heckenlively, John R. Stone, Edwin M. Mcinnes, Roderick R. |
| |
| Affiliation: | Department of Genetics, Research Institute The Hospital for Sick Children 555 University Ave Department of Molecular and Medical Genetics, University of Toronto Toronto, Ontario, Canada, MSG 1X8 1Jules Stein Eye Institute Los Angeles, CA 2Department of Pediatrics, University of Iowa Iowa City, IA, USA |
| |
| Abstract: | ![]()
To examine the role of ROM1, a homologue of peripherin/RDS,in autosomal dominant retinitis pigmentosa (adRP), we screened224 adRP and 29 simplex RP probands for ROM1 mutations. FourROM1 alleles were designated as potentially pathogenic becausethey were found only in RP patients but not in 50100controls nor in 249 other RP probands. The substitutions P60Tand T108M were present in a single alleie in a subject withtypical adRP, and this allele cosegregated with the diseasein the small family. The putative null allele L114 [ |
| |
| Keywords: | |
| 本文献已被 Oxford 等数据库收录！ |
|
